Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.910 Biomarker disease BEFREE Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. 23378164 2013
Entrez Id: 4726
Gene Symbol: NDUFS6
NDUFS6 		0.710 GeneticVariation disease BEFREE Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. 22474353 2012
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.640 GeneticVariation disease BEFREE A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant. 29395179 2018
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.640 GeneticVariation disease BEFREE Mapping the variants on published crystal structures of mitochondrial complex I demonstrate that the novel c.1118T > C (p.(Phe373Ser)) variant is predicted to diminish the affinity of the active pocket of NDUFV1 for FMN that correlates to an early onset of debilitating MCID symptoms. 29976978 2018
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.640 GeneticVariation disease BEFREE Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 11349233 2001
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.640 GeneticVariation disease BEFREE Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. 23266820 2013
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.620 GeneticVariation disease BEFREE Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. 15824269 2005
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.620 Biomarker disease BEFREE Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 11349233 2001
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2 		0.610 GeneticVariation disease BEFREE Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. 23266820 2013
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.610 GeneticVariation disease BEFREE Using NGS, we recently identified an apparently homozygous missense mutation in NUBPL in a patient with mitochondrial complex I deficiency. 22072591 2012
Entrez Id: 4714
Gene Symbol: NDUFB8
NDUFB8 		0.310 GeneticVariation disease BEFREE NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. 29429571 2018
Entrez Id: 4700
Gene Symbol: NDUFA6
NDUFA6 		0.310 GeneticVariation disease BEFREE Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. 30245030 2018
Entrez Id: 6198
Gene Symbol: RPS6KB1
RPS6KB1 		0.020 Biomarker disease BEFREE Corrigendum: Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency. 29285026 2017
Entrez Id: 6198
Gene Symbol: RPS6KB1
RPS6KB1 		0.020 Biomarker disease BEFREE Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency. 28919908 2017
Entrez Id: 23410
Gene Symbol: SIRT3
SIRT3 		0.010 Biomarker disease BEFREE Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3. 27126960 2016
Entrez Id: 137682
Gene Symbol: NDUFAF6
NDUFAF6 		0.010 GeneticVariation disease BEFREE Biallelic mutations in NDUFAF6 have been identified as responsible for cases of autosomal recessive Leigh syndrome associated with mitochondrial complex I deficiency. 29531337 2018
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1 		0.010 GeneticVariation disease BEFREE Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). 19089472 2009
Entrez Id: 342184
Gene Symbol: FMN1
FMN1 		0.010 GeneticVariation disease BEFREE Mapping the variants on published crystal structures of mitochondrial complex I demonstrate that the novel c.1118T > C (p.(Phe373Ser)) variant is predicted to diminish the affinity of the active pocket of NDUFV1 for FMN that correlates to an early onset of debilitating MCID symptoms. 29976978 2018
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.010 GeneticVariation disease BEFREE A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. 25418441 2015
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.910 CausalMutation disease CLINVAR
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.640 CausalMutation disease CLINVAR Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174 1999
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.640 GeneticVariation disease CLINVAR Siblings with leukoencephalopathy. 19073330 2008
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.640 CausalMutation disease CLINVAR Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. 26345448 2015
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.640 GeneticVariation disease CLINVAR A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. 23562761 2013
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.620 CausalMutation disease CLINVAR